MCID: PYR011
MIFTS: 29

Pyropoikilocytosis malady

Summaries for Pyropoikilocytosis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

MalaCards: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hereditary elliptocytosis and hereditary spherocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)), and among its related pathways are NCAM signaling for neurite out-growth and Interaction between L1 and Ankyrins. Related mouse phenotypes are liver/biliary system and immune system.

Description from OMIM:46 235370,266140

Aliases & Classifications for Pyropoikilocytosis

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48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Aliases & Descriptions:

pyropoikilocytosis 46
hereditary pyropoikilocytosis 48 46 60


External Ids:

ICD10 via Orphanet26 D58.1
SNOMED-CT via Orphanet57 9434008
UMLS via Orphanet61 C0520739

Related Diseases for Pyropoikilocytosis

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17GeneCards, 18GeneDecks
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Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.7EPB41, SPTB, SPTA1
2hereditary spherocytosis30.1SPTB, SPTA1
3malaria29.9EPB41
4pyropoikilocytosis hereditary10.4
5congenital hemolytic anemia10.0
6hemolytic anemia10.0
7alpha thalassemia10.0SPTB
8deficiency anemia10.0SPTA1, SPTB, EPB41

Graphical network of diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Clinical Features for Pyropoikilocytosis

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46OMIM
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Clinical features from OMIM:

235370,266140

Clinical synopsis from OMIM:

235370

Drugs & Therapeutics for Pyropoikilocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pyropoikilocytosis

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Anatomical Context for Pyropoikilocytosis

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Animal Models for Pyropoikilocytosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pyropoikilocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5SPTA1, SPTB, EPB41
2MP:00053878.5SPTA1, SPTB, EPB41
3MP:00053678.4SPTA1, SPTB, EPB41
4MP:00053978.2EPB41, SPTB, SPTA1

Publications for Pyropoikilocytosis

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Genetic Variations for Pyropoikilocytosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pyropoikilocytosis:

62
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335
2SPTA1p.Leu207ProVAR_001339rs121918643

Expression for genes affiliated with Pyropoikilocytosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyropoikilocytosis

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Pathways for genes affiliated with Pyropoikilocytosis

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53Reactome, 51QIAGEN
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Pathways related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0SPTA1, SPTB
29.0SPTA1, SPTB
3
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8.5SPTA1, SPTB, EPB41

Compounds for genes affiliated with Pyropoikilocytosis

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GO Terms for genes affiliated with Pyropoikilocytosis

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16Gene Ontology
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Cellular components related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.1SPTB, EPB41
2intrinsic to internal side of plasma membraneGO:0312358.9SPTB, SPTA1
3actin cytoskeletonGO:0156298.7SPTA1, SPTB
4spectrin-associated cytoskeletonGO:0147318.6SPTA1, SPTB, EPB41
5spectrinGO:0080918.5SPTA1, SPTB, EPB41

Biological processes related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein bindingGO:0320929.2EPB41, SPTA1
2porphyrin-containing compound biosynthetic processGO:0067799.1SPTA1, SPTB
3plasma membrane organizationGO:0070099.1SPTA1, SPTB
4actin filament cappingGO:0516939.0SPTA1, SPTB
5axon guidanceGO:0074119.0SPTA1, SPTB
6hemopoiesisGO:0300978.7SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.0SPTA1, SPTB
2actin filament bindingGO:0510158.9SPTA1, SPTB
3actin bindingGO:0037798.8SPTB, EPB41
4structural constituent of cytoskeletonGO:0052008.5SPTA1, SPTB, EPB41

Products for genes affiliated with Pyropoikilocytosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyropoikilocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet